DNAAF3 — 540 ClinVar variants
All ClinVar germline DNAAF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 213 flagged for review →
28 Pathogenic · 6 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 23 Conflicting · 17 Benign · 23 Benign/Likely benign · 183 Likely benign · 244 Uncertain significance
Full DNAAF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 213
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAAF3 p.Ala351Ser
Likely pathogenic
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala351Thr
Likely pathogenic
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Glu111Lys
Likely pathogenic
No assertion criteria
hypertrophic cardiomyopathy 4
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAAF3 p.Ala278Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg419Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp235Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp320Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Glu459Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly472Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro185Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro45Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro474Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro530Leu
Conflicting
Single submitter
primary ciliary dyskinesia 2
-
DNAAF3 p.Thr330Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val418Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAAF3 p.Ala128Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ala284Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 2
-
DNAAF3 p.Ala485Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ala529Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg164Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg193His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly10Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly12Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly378Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly444Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly515Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.His226Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.His339Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Met91Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Pro344Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Pro346Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Pro45Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Thr310Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Val283Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ala132Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala247Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala327Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala386Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala436Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala468Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala527Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Ala527Val Uncertain significance Single submitter
-
DNAAF3 p.Ala67Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg164Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg164Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 2
-
DNAAF3 p.Arg193Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg214Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg234Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg413Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg431Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg58Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg58Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn119Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn313Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn406Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn44Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn464Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn487Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn82Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp212His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp219Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp276Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp276His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gln458Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Glu459Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly199Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly286Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 2
-
DNAAF3 p.Gly425Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly463Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly463Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly499Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly540Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His42Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His42Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His59Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ile408Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Leu156Pro Uncertain significance Single submitter
-
DNAAF3 p.Leu198Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu217Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu60Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu84Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro181Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro354Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro45Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro506Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ser293Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ser535Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr297Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr305Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr305Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr465Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr465Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr63Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Trp117Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Trp17Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Trp274Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Trp324Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val126Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val170Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val224Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val238Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val32Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val418Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val520Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 109
The independent predictors disagree with each other — read with care.
-
DNAAF3 p.Ala256Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ala445Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg123His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg131Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg157Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 2
-
DNAAF3 p.Arg162Ser
Uncertain significance
Multiple submitters
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
-
DNAAF3 p.Arg164Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg259Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg267Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg429Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Arg453Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Asn252Ser
Pathogenic/Likely pathogenic
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Asp145Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Asp24Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Asp291Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gln481His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Glu108Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 2
-
DNAAF3 p.Glu288Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Glu292Gly
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Glu308Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly221Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Gly258Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Leu261Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Pro302Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ser95Asn
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Thr297Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 2
-
DNAAF3 p.Thr315Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Thr330Ile
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 2
-
DNAAF3 p.Tyr248Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Val469Met
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF3 p.Ala120Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala127Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala138Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala158Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala222Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala222Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala256Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala323Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala367Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Ala402Val Uncertain significance Single submitter
- DNAAF3 p.Ala452Pro Uncertain significance Single submitter
-
DNAAF3 p.Ala452Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Ala461Asp Uncertain significance Single submitter
-
DNAAF3 p.Ala67Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala88Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ala97Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 2
-
DNAAF3 p.Ala97Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Arg123Cys Uncertain significance Single submitter
-
DNAAF3 p.Arg146Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg162Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg172Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg172Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg172Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg188His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg259His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg267Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg379Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg413Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg419Trp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Arg453Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn313Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asn313Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp235Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp244Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp333Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Asp477His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gln495His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Glu432Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Glu470Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly199Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly207Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly258Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly404Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly405Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Gly472Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His139Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His371Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.His503Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu106Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu140Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu156Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu294Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu370Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu517Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Leu98Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Met215Leu Uncertain significance Single submitter
-
DNAAF3 p.Met389Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Phe129Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Phe454Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro101Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Pro101Thr Uncertain significance Single submitter
-
DNAAF3 p.Pro181Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro352Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro363Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Pro363Thr Uncertain significance Single submitter
-
DNAAF3 p.Pro475Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro496His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Pro496Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Pro524Ser Uncertain significance Single submitter
-
DNAAF3 p.Pro71Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ser192Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ser209Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Ser36Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Thr443Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 2
-
DNAAF3 p.Val14Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val359Ile
Conflicting
Single submitter
primary ciliary dyskinesia
- DNAAF3 p.Val359Phe Uncertain significance Single submitter
-
DNAAF3 p.Val466Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF3 p.Val87Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
All DNAAF3 variants
Pathogenic 28
- p.Arg89Ter Multiple submitters primary ciliary dyskinesia
- p.Trp117Ter Multiple submitters primary ciliary dyskinesia 2
- c.1238+1G>A Single submitter primary ciliary dyskinesia
- c.480+2_480+9del Single submitter primary ciliary dyskinesia
- c.85+2T>G Single submitter primary ciliary dyskinesia
- c.86-61_86-52del Single submitter primary ciliary dyskinesia
- c.86-6del Single submitter primary ciliary dyskinesia
- c.-14G>A Single submitter primary ciliary dyskinesia
- c.-5+6G>A Single submitter primary ciliary dyskinesia
- c.-5+7dup Single submitter primary ciliary dyskinesia
- p.Arg379Ter Single submitter primary ciliary dyskinesia
- p.Asp291fs Single submitter
- p.Gln150Ter Single submitter primary ciliary dyskinesia
- p.Gln26Ter Single submitter primary ciliary dyskinesia 2
- p.Gln420fs Single submitter primary ciliary dyskinesia
- p.Leu122fs Single submitter primary ciliary dyskinesia
- p.Leu370fs Single submitter primary ciliary dyskinesia
- p.Leu61Pro Single submitter primary ciliary dyskinesia 2
- p.Phe285_Ala289del Single submitter primary ciliary dyskinesia
- p.Pro21fs Single submitter primary ciliary dyskinesia
- p.Ser15fs Single submitter primary ciliary dyskinesia
- p.Ser200fs Single submitter primary ciliary dyskinesia
- p.Ser54fs Single submitter primary ciliary dyskinesia
- p.Trp153Ter Single submitter primary ciliary dyskinesia
- p.Trp17Ter Single submitter primary ciliary dyskinesia
- p.Trp211Ter Single submitter primary ciliary dyskinesia
- p.Val321fs Single submitter primary ciliary dyskinesia
- p.Val208fs No assertion criteria primary ciliary dyskinesia 2
Pathogenic/Likely pathogenic 6
- p.Ala399fs Multiple submitters primary ciliary dyskinesia
- p.Arg205fs Multiple submitters primary ciliary dyskinesia
- p.Asn252Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln301Ter Multiple submitters primary ciliary dyskinesia
- p.Phe426fs Multiple submitters primary ciliary dyskinesia 2
- p.Ser187delinsArgSerProTer Multiple submitters primary ciliary dyskinesia
Likely pathogenic 16
- c.789+1G>C Multiple submitters primary ciliary dyskinesia
- c.1044_1048+13del Single submitter primary ciliary dyskinesia
- c.228+5G>C Single submitter primary ciliary dyskinesia
- c.86-64G>A Single submitter primary ciliary dyskinesia
- c.-4-1G>A Single submitter primary ciliary dyskinesia
- p.Ala204fs Single submitter primary ciliary dyskinesia 2
- p.Ala351Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala351Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg66Ter Single submitter primary ciliary dyskinesia 2
- p.Phe285Ser Single submitter primary ciliary dyskinesia
- p.Pro281Arg Single submitter primary ciliary dyskinesia
- p.Pro281Leu Single submitter primary ciliary dyskinesia
- p.Ser8Ter Single submitter primary ciliary dyskinesia 2
- p.Val126fs Single submitter primary ciliary dyskinesia 2
- p.Glu111Lys No assertion criteria hypertrophic cardiomyopathy 4 ⚠
- p.His59fs No assertion criteria primary ciliary dyskinesia
Conflicting classifications of pathogenicity 23
- c.1041_1048+1del Single submitter primary ciliary dyskinesia 2
- c.1049-3C>T Single submitter primary ciliary dyskinesia
- c.323-4del Single submitter primary ciliary dyskinesia
- c.86-60A>C Single submitter primary ciliary dyskinesia
- p.Ala278Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg419Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg419Trp Single submitter primary ciliary dyskinesia ⚠
- p.Asp235Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp320Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp417= Single submitter primary ciliary dyskinesia
- p.Glu459Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly472Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly8= Single submitter primary ciliary dyskinesia 2
- p.Pro185Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro45Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro474Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro530Leu Single submitter primary ciliary dyskinesia 2 ⚠
- p.Thr330= Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
- p.Thr330Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val359Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val416= Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
- p.Val418Met Single submitter primary ciliary dyskinesia ⚠
- p.Val55fs Single submitter primary ciliary dyskinesia
Benign 17
- c.1048+14_1048+34del Multiple submitters primary ciliary dyskinesia
- c.322+145C>T Multiple submitters
- c.323-88G>T Multiple submitters
- c.481-52C>T Multiple submitters
- c.663+44C>A Multiple submitters
- c.664-60G>A Multiple submitters
- c.790-46G>T Multiple submitters
- c.86-155G>A Multiple submitters
- c.912+135A>G Multiple submitters
- c.913-111A>G Multiple submitters
- c.-5+5G>T Multiple submitters primary ciliary dyskinesia
- c.1048+278C>T Single submitter
- c.1048+287T>C Single submitter
- c.1163+96_1163+132del Single submitter
- c.1164-116del Single submitter
- c.-91C>T Single submitter primary ciliary dyskinesia
- p.Pro352= Single submitter
Benign/Likely benign 23
- c.1163+10G>T Multiple submitters primary ciliary dyskinesia
- c.1164-14C>T Multiple submitters primary ciliary dyskinesia
- c.1239-8A>G Multiple submitters primary ciliary dyskinesia 2
- c.323-17T>G Multiple submitters primary ciliary dyskinesia
- c.790-14C>T Multiple submitters primary ciliary dyskinesia
- c.913-13C>T Multiple submitters primary ciliary dyskinesia
- c.-15G>C Multiple submitters primary ciliary dyskinesia
- c.-44C>T Multiple submitters
- c.-4G>A Multiple submitters primary ciliary dyskinesia
- c.-59C>T Multiple submitters primary ciliary dyskinesia
- p.Ala222= Multiple submitters primary ciliary dyskinesia 2
- p.Arg109= Multiple submitters primary ciliary dyskinesia
- p.Asn365= Multiple submitters primary ciliary dyskinesia
- p.Cys375Tyr Multiple submitters primary ciliary dyskinesia
- p.Glu292Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly177= Multiple submitters primary ciliary dyskinesia
- p.Gly177Ser Multiple submitters primary ciliary dyskinesia
- p.Leu334Pro Multiple submitters primary ciliary dyskinesia
- p.Pro352= Multiple submitters primary ciliary dyskinesia
- p.Thr2= Multiple submitters primary ciliary dyskinesia
- p.Thr330Ile Multiple submitters primary ciliary dyskinesia 2 ⚠
- p.Val170= Multiple submitters primary ciliary dyskinesia
- p.Val469Met Multiple submitters primary ciliary dyskinesia ⚠
Likely benign 183
- c.480+9G>T Multiple submitters primary ciliary dyskinesia 2
- c.664-9C>T Multiple submitters primary ciliary dyskinesia
- c.913-8A>G Multiple submitters primary ciliary dyskinesia
- c.-65G>C Multiple submitters primary ciliary dyskinesia
- p.Ala134= Multiple submitters primary ciliary dyskinesia
- p.Ala306= Multiple submitters primary ciliary dyskinesia
- p.Ala489= Multiple submitters primary ciliary dyskinesia
- p.Arg234= Multiple submitters primary ciliary dyskinesia
- p.Asn119= Multiple submitters primary ciliary dyskinesia
- p.Asp477= Multiple submitters primary ciliary dyskinesia
- p.Glu459= Multiple submitters primary ciliary dyskinesia
- p.Gly118= Multiple submitters primary ciliary dyskinesia
- p.Gly300= Multiple submitters primary ciliary dyskinesia
- p.Gly526= Multiple submitters primary ciliary dyskinesia
- p.His249= Multiple submitters primary ciliary dyskinesia
- p.His312= Multiple submitters primary ciliary dyskinesia
- p.Leu60= Multiple submitters primary ciliary dyskinesia
- p.Phe451= Multiple submitters primary ciliary dyskinesia
- p.Pro142= Multiple submitters primary ciliary dyskinesia
- p.Pro363= Multiple submitters primary ciliary dyskinesia
- p.Pro471= Multiple submitters primary ciliary dyskinesia
- p.Pro474= Multiple submitters primary ciliary dyskinesia
- p.Ser54= Multiple submitters primary ciliary dyskinesia
- p.Ser95Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr236= Multiple submitters primary ciliary dyskinesia
- p.Thr279= Multiple submitters primary ciliary dyskinesia 2
- p.Thr297= Multiple submitters primary ciliary dyskinesia
- p.Thr315= Multiple submitters primary ciliary dyskinesia
- p.Thr63= Multiple submitters primary ciliary dyskinesia
- p.Val409= Multiple submitters primary ciliary dyskinesia
- c.1048+12ACA[2] Single submitter primary ciliary dyskinesia
- c.1048+14_1048+15delinsTC Single submitter primary ciliary dyskinesia
- c.1048+202_1048+206dup Single submitter
- c.1049-1G>A Single submitter primary ciliary dyskinesia
- c.1163+7G>A Single submitter primary ciliary dyskinesia
- c.1163+7G>C Single submitter primary ciliary dyskinesia
- c.1163+8G>A Single submitter primary ciliary dyskinesia
- c.1164-10C>G Single submitter primary ciliary dyskinesia
- c.1164-15C>T Single submitter
- c.1164-18C>A Single submitter primary ciliary dyskinesia
- c.1164-20G>A Single submitter primary ciliary dyskinesia
- c.1164-5T>C Single submitter primary ciliary dyskinesia
- c.1164-8C>T Single submitter primary ciliary dyskinesia
- c.1238+14G>A Single submitter primary ciliary dyskinesia
- c.1238+20G>A Single submitter primary ciliary dyskinesia
- c.1238+9G>T Single submitter primary ciliary dyskinesia
- c.1239-15G>A Single submitter primary ciliary dyskinesia
- c.1239-16C>T Single submitter primary ciliary dyskinesia
- c.1239-9_1239-8inv Single submitter primary ciliary dyskinesia
- c.228+10G>A Single submitter primary ciliary dyskinesia
- c.229-6T>C Single submitter primary ciliary dyskinesia
- c.322+13_322+16del Single submitter primary ciliary dyskinesia
- c.322+13G>A Single submitter primary ciliary dyskinesia
- c.322+16C>A Single submitter primary ciliary dyskinesia
- c.322+17C>T Single submitter primary ciliary dyskinesia
- c.323-11TC[2] Single submitter primary ciliary dyskinesia
- c.323-14C>A Single submitter primary ciliary dyskinesia
- c.323-14C>T Single submitter primary ciliary dyskinesia
- c.323-4G>A Single submitter primary ciliary dyskinesia
- c.323-5C>T Single submitter
- c.323-5dup Single submitter primary ciliary dyskinesia
- c.323-6C>T Single submitter primary ciliary dyskinesia
- c.480+14G>A Single submitter primary ciliary dyskinesia
- c.481-19C>T Single submitter primary ciliary dyskinesia
- c.481-4G>A Single submitter primary ciliary dyskinesia
- c.481-5C>T Single submitter primary ciliary dyskinesia
- c.481-8C>A Single submitter primary ciliary dyskinesia
- c.663+11C>G Single submitter primary ciliary dyskinesia
- c.663+20G>A Single submitter primary ciliary dyskinesia
- c.663+9C>T Single submitter primary ciliary dyskinesia
- c.664-13C>T Single submitter primary ciliary dyskinesia
- c.664-17C>G Single submitter primary ciliary dyskinesia
- c.664-4C>A Single submitter primary ciliary dyskinesia
- c.664-8C>A Single submitter primary ciliary dyskinesia
- c.664-8C>T Single submitter primary ciliary dyskinesia
- c.789+15C>T Single submitter primary ciliary dyskinesia
- c.790-12C>A Single submitter primary ciliary dyskinesia
- c.790-18C>G Single submitter primary ciliary dyskinesia
- c.790-9C>T Single submitter primary ciliary dyskinesia
- c.85+10A>C Single submitter primary ciliary dyskinesia
- c.85+17A>G Single submitter primary ciliary dyskinesia
- c.85+20G>A Single submitter primary ciliary dyskinesia
- c.86-14T>G Single submitter primary ciliary dyskinesia
- c.86-62G>A Single submitter primary ciliary dyskinesia
- c.86-68dup Single submitter primary ciliary dyskinesia
- c.86-68T>C Single submitter primary ciliary dyskinesia
- c.86-70T>G Single submitter primary ciliary dyskinesia
- c.912+10G>A Single submitter primary ciliary dyskinesia
- c.912+13del Single submitter primary ciliary dyskinesia
- c.912+13G>C Single submitter primary ciliary dyskinesia
- c.912+20C>G Single submitter primary ciliary dyskinesia
- c.912+7G>A Single submitter primary ciliary dyskinesia
- c.913-16C>G Single submitter primary ciliary dyskinesia
- c.913-64A>C Single submitter
- c.913-9T>C Single submitter primary ciliary dyskinesia
- c.-38G>A Single submitter primary ciliary dyskinesia
- c.-4-11C>G Single submitter primary ciliary dyskinesia
- c.-41A>G Single submitter primary ciliary dyskinesia
- c.-47G>A Single submitter primary ciliary dyskinesia
- c.-62C>A Single submitter primary ciliary dyskinesia
- c.-68G>C Single submitter primary ciliary dyskinesia
- c.-92T>G Single submitter
- p.Ala127= Single submitter primary ciliary dyskinesia
- p.Ala128= Single submitter primary ciliary dyskinesia
- p.Ala166= Single submitter primary ciliary dyskinesia
- p.Ala204= Single submitter
- p.Ala247= Single submitter primary ciliary dyskinesia
- p.Ala284= Single submitter primary ciliary dyskinesia
- p.Ala38= Single submitter primary ciliary dyskinesia
- p.Ala402= Single submitter primary ciliary dyskinesia
- p.Ala67= Single submitter primary ciliary dyskinesia
- p.Ala97= Single submitter primary ciliary dyskinesia
- p.Arg157= Single submitter primary ciliary dyskinesia
- p.Arg206= Single submitter primary ciliary dyskinesia
- p.Arg220= Single submitter primary ciliary dyskinesia
- p.Arg419= Single submitter primary ciliary dyskinesia
- p.Arg58= Single submitter primary ciliary dyskinesia
- p.Arg66= Single submitter primary ciliary dyskinesia
- p.Arg72= Single submitter primary ciliary dyskinesia
- p.Asn299= Single submitter primary ciliary dyskinesia
- p.Asn377= Single submitter primary ciliary dyskinesia
- p.Asn377Lys Single submitter primary ciliary dyskinesia
- p.Asn82= Single submitter primary ciliary dyskinesia
- p.Asp145= Single submitter primary ciliary dyskinesia
- p.Asp203= Single submitter primary ciliary dyskinesia
- p.Asp24= Single submitter primary ciliary dyskinesia
- p.Asp291= Single submitter primary ciliary dyskinesia
- p.Asp333= Single submitter primary ciliary dyskinesia
- p.Asp333Glu Single submitter primary ciliary dyskinesia
- p.Asp39= Single submitter primary ciliary dyskinesia
- p.Gln498= Single submitter primary ciliary dyskinesia
- p.Glu111= Single submitter primary ciliary dyskinesia
- p.Glu491= Single submitter primary ciliary dyskinesia
- p.Glu512= Single submitter primary ciliary dyskinesia
- p.Glu81= Single submitter primary ciliary dyskinesia
- p.Gly18= Single submitter primary ciliary dyskinesia
- p.Gly307= Single submitter primary ciliary dyskinesia
- p.Gly463= Single submitter primary ciliary dyskinesia
- p.Gly53= Single submitter primary ciliary dyskinesia
- p.His503= Single submitter primary ciliary dyskinesia
- p.His59= Single submitter primary ciliary dyskinesia
- p.Ile309= Single submitter primary ciliary dyskinesia
- p.Ile394= Single submitter primary ciliary dyskinesia
- p.Leu114= Single submitter primary ciliary dyskinesia
- p.Leu121= Single submitter primary ciliary dyskinesia
- p.Leu154= Single submitter primary ciliary dyskinesia
- p.Leu194= Single submitter primary ciliary dyskinesia
- p.Leu198= Single submitter primary ciliary dyskinesia
- p.Leu217= Single submitter primary ciliary dyskinesia
- p.Leu261= Single submitter primary ciliary dyskinesia
- p.Leu317= Single submitter primary ciliary dyskinesia
- p.Leu362= Single submitter primary ciliary dyskinesia
- p.Leu407= Single submitter primary ciliary dyskinesia
- p.Leu483Pro Single submitter primary ciliary dyskinesia
- p.Leu497= Single submitter primary ciliary dyskinesia
- p.Leu84= Single submitter primary ciliary dyskinesia
- p.Lys456= Single submitter primary ciliary dyskinesia
- p.Phe285= Single submitter primary ciliary dyskinesia
- p.Phe361= Single submitter primary ciliary dyskinesia
- p.Pro101= Single submitter primary ciliary dyskinesia
- p.Pro101= Single submitter primary ciliary dyskinesia
- p.Pro124= Single submitter primary ciliary dyskinesia
- p.Pro144= Single submitter primary ciliary dyskinesia
- p.Pro227= Single submitter primary ciliary dyskinesia
- p.Pro344= Single submitter primary ciliary dyskinesia
- p.Pro354= Single submitter
- p.Pro395= Single submitter
- p.Pro403= Single submitter primary ciliary dyskinesia
- p.Pro530= Single submitter primary ciliary dyskinesia
- p.Ser192= Single submitter primary ciliary dyskinesia
- p.Ser257= Single submitter primary ciliary dyskinesia
- p.Ser460= Single submitter primary ciliary dyskinesia
- p.Ser535= Single submitter primary ciliary dyskinesia
- p.Thr297= Single submitter primary ciliary dyskinesia
- p.Thr3= Single submitter primary ciliary dyskinesia
- p.Thr358= Single submitter primary ciliary dyskinesia
- p.Thr428= Single submitter primary ciliary dyskinesia
- p.Thr443= Single submitter primary ciliary dyskinesia
- p.Thr465= Single submitter primary ciliary dyskinesia
- p.Tyr273= Single submitter primary ciliary dyskinesia
- p.Val126= Single submitter primary ciliary dyskinesia
- p.Val385= Single submitter primary ciliary dyskinesia
- p.Val41= Single submitter primary ciliary dyskinesia
Uncertain significance 244
- c.789+5G>C Multiple submitters primary ciliary dyskinesia
- c.-37G>A Multiple submitters primary ciliary dyskinesia
- c.-81G>A Multiple submitters primary ciliary dyskinesia
- p.Ala128Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala256Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala284Asp Multiple submitters primary ciliary dyskinesia 2 ⚠
- p.Ala445Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala485Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala529Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala529fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
- p.Arg123His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg131Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg157Cys Multiple submitters primary ciliary dyskinesia 2 ⚠
- p.Arg162Ser Multiple submitters Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ⚠
- p.Arg164Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg164Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg193His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg259Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg267Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg429Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg453Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp145Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp24Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp291Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln481His Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu108Lys Multiple submitters primary ciliary dyskinesia 2 ⚠
- p.Glu288Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu308Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu491Ter Multiple submitters primary ciliary dyskinesia
- p.Gly10Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly12Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly221Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly258Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly378Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly444Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly515Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.His226Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.His339Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu261Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Met91Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro302Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro344Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro346Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro45Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ter542Trp Multiple submitters primary ciliary dyskinesia
- p.Thr297Met Multiple submitters primary ciliary dyskinesia 2 ⚠
- p.Thr310Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr315Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr248Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Val283Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1239-20A>G Single submitter primary ciliary dyskinesia
- c.228+17A>G Single submitter primary ciliary dyskinesia
- c.480+5C>A Single submitter primary ciliary dyskinesia
- c.480+5C>T Single submitter primary ciliary dyskinesia
- c.481-3C>G Single submitter primary ciliary dyskinesia
- c.663+14_663+15delinsAC Single submitter primary ciliary dyskinesia
- c.664-2_681dup Single submitter primary ciliary dyskinesia
- c.789+5G>A Single submitter primary ciliary dyskinesia
- c.85+3G>C Single submitter primary ciliary dyskinesia
- c.86-1G>T Single submitter primary ciliary dyskinesia
- c.86-20G>T Single submitter primary ciliary dyskinesia
- c.86-28G>A Single submitter primary ciliary dyskinesia
- c.86-48A>G Single submitter primary ciliary dyskinesia
- c.86-49G>A Single submitter primary ciliary dyskinesia
- c.86-57C>A Single submitter primary ciliary dyskinesia
- c.86-61G>T Single submitter primary ciliary dyskinesia
- c.86-62G>T Single submitter primary ciliary dyskinesia
- c.86-66T>A Single submitter
- c.912+4C>A Single submitter primary ciliary dyskinesia
- c.912+5G>A Single submitter primary ciliary dyskinesia
- c.912+5G>C Single submitter
- c.913-18C>G Single submitter primary ciliary dyskinesia
- c.-21A>T Single submitter primary ciliary dyskinesia
- c.-24G>A Single submitter primary ciliary dyskinesia
- c.-2T>C Single submitter primary ciliary dyskinesia
- c.-3G>T Single submitter primary ciliary dyskinesia
- c.-4G>C Single submitter primary ciliary dyskinesia
- c.-5+7G>A Single submitter primary ciliary dyskinesia
- c.-60A>G Single submitter primary ciliary dyskinesia
- c.-67C>T Single submitter primary ciliary dyskinesia
- c.-69C>G Single submitter primary ciliary dyskinesia
- c.-72T>G Single submitter primary ciliary dyskinesia
- c.-75G>C Single submitter primary ciliary dyskinesia
- c.-78G>A Single submitter primary ciliary dyskinesia
- c.-7A>G Single submitter primary ciliary dyskinesia
- c.-88G>T Single submitter primary ciliary dyskinesia
- c.-93C>T Single submitter primary ciliary dyskinesia
- c.-9T>C Single submitter primary ciliary dyskinesia
- p.Ala120Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala127Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala132Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala138Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala158Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala222Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala222Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala247Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala256Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala323Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala327Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala367Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala386Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala436Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala452Pro Single submitter ⚠
- p.Ala452Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala461Asp Single submitter ⚠
- p.Ala468Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala527Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala527Val Single submitter ⚠
- p.Ala67Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala67Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala88Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala97Pro Single submitter primary ciliary dyskinesia 2 ⚠
- p.Ala97Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg146Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg162Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg164Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg164Pro Single submitter primary ciliary dyskinesia 2 ⚠
- p.Arg172Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg172Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg172Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg188His Single submitter primary ciliary dyskinesia ⚠
- p.Arg193Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg214Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg220Leu Single submitter primary ciliary dyskinesia
- p.Arg234Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg259His Single submitter primary ciliary dyskinesia ⚠
- p.Arg267Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg379Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg413Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg413Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg431Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg453Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg58Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg58Trp Single submitter primary ciliary dyskinesia ⚠
- p.Asn119Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn313Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn313Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn313Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn406Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn44Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn464Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn487Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn82Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asp212His Single submitter primary ciliary dyskinesia ⚠
- p.Asp219Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp235Ala Single submitter primary ciliary dyskinesia ⚠
- p.Asp244Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp276Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp276His Single submitter primary ciliary dyskinesia ⚠
- p.Asp333Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp477His Single submitter primary ciliary dyskinesia ⚠
- p.Gln458Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln495His Single submitter primary ciliary dyskinesia ⚠
- p.Glu432Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu459Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu470fs Single submitter primary ciliary dyskinesia
- p.Glu470Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu491Arg Single submitter primary ciliary dyskinesia
- p.Gly199Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly199Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly207Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly258Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly286Ser Single submitter primary ciliary dyskinesia 2 ⚠
- p.Gly404Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly405Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly425Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly438Ter Single submitter primary ciliary dyskinesia 2
- p.Gly463Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly463Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly472Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly499Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly540Arg Single submitter primary ciliary dyskinesia ⚠
- p.His139Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His196delinsLeuGly Single submitter primary ciliary dyskinesia
- p.His371Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His42Gln Single submitter primary ciliary dyskinesia ⚠
- p.His42Leu Single submitter primary ciliary dyskinesia ⚠
- p.His503Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His59Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile408Thr Single submitter primary ciliary dyskinesia ⚠
- p.Leu106Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu140Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu156Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu156Pro Single submitter ⚠
- p.Leu198Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu217Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu294Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu370Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu493fs Single submitter primary ciliary dyskinesia
- p.Leu4Trp Single submitter primary ciliary dyskinesia
- p.Leu517Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu60Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu84Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu98Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met215Leu Single submitter ⚠
- p.Met389Ile Single submitter primary ciliary dyskinesia ⚠
- p.Phe129Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe454Val Single submitter primary ciliary dyskinesia ⚠
- p.Pro101Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro181Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro181Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro352Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro354Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro363Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro363Thr Single submitter ⚠
- p.Pro45Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro475Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro496His Single submitter primary ciliary dyskinesia ⚠
- p.Pro496Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro506Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro524Ser Single submitter ⚠
- p.Pro71Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser192Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser209Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser293Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser36Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser535Leu Single submitter primary ciliary dyskinesia ⚠
- p.Thr297Arg Single submitter primary ciliary dyskinesia ⚠
- p.Thr305= Single submitter primary ciliary dyskinesia
- p.Thr305Lys Single submitter primary ciliary dyskinesia ⚠
- p.Thr305Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr443Ile Single submitter primary ciliary dyskinesia 2 ⚠
- p.Thr465Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr465Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr63Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp117Cys Single submitter primary ciliary dyskinesia ⚠
- p.Trp17Arg Single submitter primary ciliary dyskinesia ⚠
- p.Trp274Arg Single submitter primary ciliary dyskinesia ⚠
- p.Trp324Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr263= Single submitter primary ciliary dyskinesia
- p.Val126Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val14Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val170Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val224Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val238Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val32Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val359Phe Single submitter ⚠
- p.Val418Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val466Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val520Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val87Ala Single submitter primary ciliary dyskinesia ⚠